Skip to main content
Top
Published in: Journal of Genetic Counseling 5/2017

01-10-2017 | Letter to Editor

Response to Dr. Sorscher

Authors: Heidi Lumish, Wendy Chung

Published in: Journal of Genetic Counseling | Issue 5/2017

Login to get access

Excerpt

Thank you very much for your careful reading of our manuscript and your thoughtful comments. You raise two interesting points pertaining to the population tested in our study. For those individuals in our study who had a negative genetic test result, their care was managed based on the National Comprehensive Cancer Network (NCCN) guidelines, as you suggested. Our study, however, was not powered to distinguish between levels of anxiety among patients with different risk profiles. With regard to the penetrance of BRCA1/2, in theory it is possible that the risk for individuals with no personal or family history of breast or ovarian cancer differs from the risk of those with a significant personal or family history of cancer. These two populations could have different types of BRCA1/2 mutations (Rebbeck et al. 2015) and/or modifiers at separate loci could also alter the risk conferred by the BRCA1/2 mutation (Barnes and Antoniou 2012; Couch et al. 2013; Gaudet et al. 2013; Hamdi et al. 2017). However, participants in our study came through a cancer genetic clinic and were referred for either a personal and/or family history of breast or ovarian cancer. Further research beyond our study will be necessary to address your important points. …
Literature
go back to reference Hamdi, Y., Soucy, P., Kuchenbaeker, K. B., Pastinen, T., Droit, A., Lemacon, A., et al. (2017). Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: Identification of a modifier of breast cancer risk at locus 11q22.3. Breast Cancer Research and Treatment, 161(1), 117–134. doi:10.1007/s10549-016-4018-2.CrossRefPubMed Hamdi, Y., Soucy, P., Kuchenbaeker, K. B., Pastinen, T., Droit, A., Lemacon, A., et al. (2017). Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: Identification of a modifier of breast cancer risk at locus 11q22.3. Breast Cancer Research and Treatment, 161(1), 117–134. doi:10.​1007/​s10549-016-4018-2.CrossRefPubMed
Metadata
Title
Response to Dr. Sorscher
Authors
Heidi Lumish
Wendy Chung
Publication date
01-10-2017
Publisher
Springer US
Published in
Journal of Genetic Counseling / Issue 5/2017
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI
https://doi.org/10.1007/s10897-017-0110-y

Other articles of this Issue 5/2017

Journal of Genetic Counseling 5/2017 Go to the issue